True fetal mosaicism of an isochromosome of the long arm of a chromosome 20: the dilemma persists.
We report the prenatal findings of mos 46,XY/46,XY,i(20q) after amniocentesis. The propositus presented with two epidermal scalp scars, retrobulbar orbital cysts, and dyssegmentation of the thoracic spine. The abnormal cell line was discovered in cells cultured from the proximal umbilical cord and--by fluorescence in situ hybridization (FISH)--in interphase nuclei from buccal epithelium and urinary sediment but not from the placenta, lymphocytes, or skin fibroblasts.
Pfeiffer
R A
RA
Institut für Humangenetick, Erlangen, Germany.
Ulmer
R
R
Rauch
A
A
Trautmann
U
U
Beinder
E
E
Rupprecht
T
T
Mayer
U
U
Steinkirchner
B
B
Wündisch
G F
GF
D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology; D001706:Biopsy; D002478:Cells, Cultured; D002890:Chromosomes, Human, Pair 20; D005260:Female; D005312:Fetal Blood / Q000166:cytology; D005315:Fetal Diseases / Q000097:blood / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018404:Isochromosomes / Q000235:genetics*; D007621:Karyotyping; D009030:Mosaicism / Q000235:genetics* / Q000473:pathology; D010920:Placenta / Q000473:pathology; D011247:Pregnancy; D012867:Skin / Q000473:pathology; D014470:Umbilical Cord / Q000473:pathology